Revel Score:
ENST00000238682 (MANE Select)
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75959200C>T , CM000676.2:g.75959200C>T | GRCh38 |
| NC_000014.8:g.76425543C>T , CM000676.1:g.76425543C>T | GRCh37 |
| NC_000014.7:g.75495296C>T | NCBI36 |
| NG_011715.1:g.27550G>A , LRG_399:g.27550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.1226G>A (TGFB3) MANE Select | ENSP00000238682.3:p.Cys409Tyr | |
| ENST00000556674.2:c.1226G>A (TGFB3) | ENSP00000502685.1:p.Cys409Tyr | |
| ENST00000238682.7:c.1226G>A (TGFB3) | ENSP00000238682.3:p.Cys409Tyr | |
| ENST00000554980.5:n.1607G>A (TGFB3) | ||
| ENST00000555677.5:n.90-29685C>T (IFT43) | ||
| NM_003239.3:c.1226G>A (TGFB3) | NP_003230.1:p.Cys409Tyr | |
| XM_005268028.1:c.1226G>A (TGFB3) | XP_005268085.1:p.Cys409Tyr | |
| NM_001329939.1:c.1226G>A (TGFB3) | NP_001316868.1:p.Cys409Tyr | |
| NM_003239.4:c.1226G>A (TGFB3) | NP_003230.1:p.Cys409Tyr | |
| NM_001329939.2:c.1226G>A (TGFB3) | NP_001316868.1:p.Cys409Tyr | |
| NM_003239.5:c.1226G>A (TGFB3) MANE Select | NP_003230.1:p.Cys409Tyr |